Kinetic and metabolic studies in HPRT deficiency
The patient (T.K.), was first diagnosed as having a partial hypoxanthine-guanine phosphoribosyltransferase deficiency in 1978 when he was 20 years old. At presentation, he complained of a colicky loin-pain which radiated into his groin, and that he had had dark urine for a month. He was shown to hav...
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| Format: | Doctoral Thesis |
| Language: | English |
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University of Cape Town
2018
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| Online Access: | http://hdl.handle.net/11427/27255 |